(Q24621518)

22 June 2017

title

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia (English)

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22 June 2017

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21

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22 June 2017

29

Guy A Rouleau

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Anjene M. Addington

Anjené M Addington

12

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Marie-Odile Krebs

Marie-Odile Krebs

15

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Christian Neri

Christian Néri

20

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Dan Spiegelman

5

Dan Spiegelman

1 reference

22 June 2017

1

Julie Gauthier

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22 June 2017

13

Judith L Rapoport

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22 June 2017

28

Pierre Drapeau

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22 June 2017

10

Anne Noreau

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22 June 2017

4

Lan Xiong

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22 June 2017

2

Nathalie Champagne

1 reference

22 June 2017

7

Mathieu Lapointe

1 reference

22 June 2017

3

Ronald G Lafrenière

1 reference

22 June 2017

17

Ferid Fathalli

1 reference

22 June 2017

27

Salvatore Carbonetto

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22 June 2017

25

Philip Awadalla

1 reference

22 June 2017

9

Mélanie Côté

1 reference

22 June 2017

23

Claude Marineau

1 reference

22 June 2017

6

Edna Brustein

1 reference

22 June 2017

8

Huashan Peng

1 reference

22 June 2017

18

Fayçal Mouaffak

1 reference

22 June 2017

Fadi F Hamdan

11

1 reference

22 June 2017

Lynn E Delisi

14

1 reference

22 June 2017

Ridha Joober

16

1 reference

22 June 2017

Ali P Haghighi

19

1 reference

22 June 2017

Mark E Samuels

22

1 reference

22 June 2017

Eric A Stone

24

1 reference

22 June 2017

Philip A Barker

26

1 reference

22 June 2017

S2D Team

30

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22 June 2017

language of work or name

English

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publication date

12 April 2010

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Proceedings of the National Academy of Sciences of the United States of America

22 June 2017

published in

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22 June 2017

volume

107

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22 June 2017

issue

17

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22 June 2017

page(s)

7863-7868

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Large recurrent microdeletions associated with schizophrenia

22 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Contribution of SHANK3 mutations to autism spectrum disorder

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Strong association of de novo copy number mutations with sporadic schizophrenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Adaptive protein evolution at the Adh locus in Drosophila

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

SIFT: Predicting amino acid changes that affect protein function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Human non-synonymous SNPs: server and survey

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Prediction of deleterious human alleles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Regional differences in synaptogenesis in human cerebral cortex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Regulation of dendritic spine morphology and synaptic function by Shank and Homer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Pre-morbid IQ in mental disorders: a Danish draft-board study of 7486 psychiatric patients

10 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

SNAP predicts effect of mutations on protein function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Premorbid IQ in schizophrenia: a meta-analytic review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

SNAP: predict effect of non-synonymous polymorphisms on function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Schizophrenia risk and paternal age: a potential role for de novo mutations in schizophrenia vulnerability genes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Development of the locomotor network in zebrafish

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Family and twin strategies as a head start in defining prodromes and endophenotypes for hypothetical early-interventions in schizophrenia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

High genomic deleterious mutation rates in hominids

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Reproductive fitness in familial schizophrenia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Genetic linkage and complex diseases, with special reference to psychiatric disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Autism screening questionnaire: diagnostic validity

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Novel de novo SHANK3 mutation in autistic patients

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Evidence for two schizophrenia susceptibility genes on chromosome 22q13.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Schizophrenia in a patient with subtelomeric duplication of chromosome 22q

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Inference of expression-dependent negative selection based on polymorphism and divergence in the human genome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Novel vector systems optimized for injecting in vitro-synthesized mRNA into zebrafish embryos.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

Multicenter linkage study of schizophrenia loci on chromosome 22q.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

IQ and risk for schizophrenia: a population-based cohort study

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2867875

MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20385823

12 December 2020

inferred from PubMed ID database lookup

Chromosome 22 markers demonstrate transmission disequilibrium with schizophrenia

2 references

PubMed

https://pubmed.ncbi.nlm.nih.gov/20385823

12 December 2020

inferred from PubMed ID database lookup

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0906232107

7 January 2021

inferred from DOI database lookup

Search for common haplotypes on chromosome 22q in patients with schizophrenia or bipolar disorder from the Faroe Islands

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20385823

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.0906232107

1 reference

release_k4pamsauqfh6xfnazvys6zxwau

22 June 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/k4pamsauqfh6xfnazvys6zxwau

24 November 2022

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1954886

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1954886

1 reference